Symptoms and Testing information for MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test

Symptoms and Testing information for MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test

Centronuclear Myopathy Type 1, also known as myotubular myopathy, is a rare genetic disorder that primarily affects skeletal muscles. It is caused by mutations in the MTMR14 gene. This condition can lead to muscle weakness, respiratory difficulties, and various developmental delays. Understanding the symptoms and undergoing genetic testing can be crucial for early diagnosis and […]

Symptoms and Testing information for BIN1 Gene Centronuclear Myopathy Type 2 Genetic Test

Symptoms and Testing information for BIN1 Gene Centronuclear Myopathy Type 2 Genetic Test

Centronuclear myopathies (CNM) are a group of rare genetic muscle disorders characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers. Among the different types of CNM, BIN1 gene centronuclear myopathy, also known as Type 2, is distinguished by mutations in the BIN1 gene. Understanding the symptoms and undergoing genetic testing for this […]

Symptoms and Testing information for COL6A3 Gene Bethlem Myopathy Type 1 Genetic Test

Symptoms and Testing information for COL6A3 Gene Bethlem Myopathy Type 1 Genetic Test

Bethlem Myopathy Type 1 is a genetic condition that affects the connective tissue, primarily causing muscle weakness and joint stiffness. It is associated with mutations in the COL6A3 gene, which plays a crucial role in maintaining the structural integrity of muscle and skin tissues. As a leading genetic laboratory, DNA Labs UAE offers comprehensive testing […]

Symptoms and Testing information for COL12A1 Gene Bethlem Myopathy Type 2 Genetic Test

Symptoms and Testing information for COL12A1 Gene Bethlem Myopathy Type 2 Genetic Test

— Bethlem Myopathy Type 2 is a rare genetic condition that affects muscle development and function. This condition is caused by mutations in the COL12A1 gene, which plays a critical role in the strength and integrity of muscle and connective tissue. Recognizing the symptoms of Bethlem Myopathy Type 2 is crucial for early diagnosis and […]

Symptoms and Testing information for PHF6 Gene Borjeson-Forssman-Lehmann Syndrome Genetic Test

Symptoms and Testing information for PHF6 Gene Borjeson-Forssman-Lehmann Syndrome Genetic Test

Borjeson-Forssman-Lehmann Syndrome (BFLS) is a rare and complex genetic condition that affects many parts of the body. It is characterized by intellectual disability, obesity, seizures, gynecomastia (enlarged breast tissue in males), hypogonadism (a condition in which the sex glands produce little or no hormones), and distinctive facial features. The syndrome is caused by mutations in […]

Symptoms and Testing information for NTNG1 Gene Autism NTNG1 Related Genetic Test

Symptoms and Testing information for NTNG1 Gene Autism NTNG1 Related Genetic Test

Autism Spectrum Disorder (ASD) is a complex developmental condition that involves persistent challenges in social interaction, speech and nonverbal communication, and restricted/repetitive behaviors. The manifestations of autism vary greatly among individuals, but it often presents itself during early childhood and affects a person’s ability to communicate and interact with others. With the advancements in genetic […]

Symptoms and Testing information for ATP2A1 Gene Brody Myopathy Genetic Test

Symptoms and Testing information for ATP2A1 Gene Brody Myopathy Genetic Test

Brody Myopathy is a rare genetic disorder that affects skeletal muscle function. It is characterized by muscle stiffness and difficulty relaxing muscles after contracting them, especially after exercise. This condition is caused by mutations in the ATP2A1 gene, which plays a crucial role in muscle relaxation by controlling calcium levels within muscle cells. Understanding the […]

Symptoms and Testing information for OR13H1 Gene Autism OR13H1 Related Genetic Test

Symptoms and Testing information for OR13H1 Gene Autism OR13H1 Related Genetic Test

Understanding the OR13H1 Gene and Its Connection to Autism Autism Spectrum Disorder (ASD) is a complex developmental condition that involves persistent challenges in social interaction, speech, and nonverbal communication, along with restricted/repetitive behaviors. The causes of autism are diverse and include genetic, environmental, and neurological factors. Recent advancements in genetic research have unveiled the role […]

Symptoms and Testing information for MAOA Gene Brunner Syndrome Genetic Test

Symptoms and Testing information for MAOA Gene Brunner Syndrome Genetic Test

The discovery of the MAOA gene and its link to Brunner syndrome has been a significant milestone in the field of genetics. This rare condition, also known as MAOA deficiency syndrome, has been the subject of extensive research. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the MAOA Gene […]

Symptoms and Testing information for OXTR Gene Autism OXTR Related Genetic Test

Symptoms and Testing information for OXTR Gene Autism OXTR Related Genetic Test

Autism spectrum disorder (ASD) is a complex developmental condition that involves persistent challenges in social interaction, speech, and nonverbal communication, along with restricted/repetitive behaviors. The symptoms are usually apparent by the time a child is 2 years old. Autism affects an individual’s ability to communicate and interact with others, with symptoms and severity varying widely. […]

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